Results 101 to 110 of about 157,645 (329)

Splenomegaly in predicting the survival of patients with advanced primary liver cancer treated with immune checkpoint inhibitors

Cancer Medicine, Volume 11, Issue 24, Page 4880-4888, December 2022., 2022
Kaplan–Meier analysis demonstrated that patients with splenomegaly had worse OS than those without splenomegaly. Abstract Background & aims Immune checkpoint inhibitors (ICIs) play an increasingly important role in the treatment of primary liver cancer (PLC). Some patients with PLC experience symptoms of splenomegaly.
Lu‐Shan Xiao, Cheng‐Yi Hu, Hao Cui, Rui‐Ning Li, Chang Hong, Qi‐Mei Li, Chao‐Yi Huang, Zhong‐Yi Dong, Hong‐Bo Zhu, Li Liu   +9 more
wiley   +1 more source

Isolation of single cells from human hepatoblastoma tissues for whole-exome sequencing

STAR Protocols, 2023
Summary: By combining single-cell processing with whole-exome sequencing, we have developed single-cell whole-exome sequencing to investigate the mechanisms of hepatoblastoma development and to provide potential targets and therapeutic approaches for ...
Jian He, Mei Meng, Xianchao Zhou, Rui Gao, Hui Wang   +4 more
doaj  

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing

Molecular Genetics & Genomic Medicine, 2020
Background Congenital dyserythropoiesis anemia type Ia (OMIM:224120), is a rare hereditary anemia. The diagnosis is difficult to make and usually delayed in part due to its rarity and nonspecific clinical manifestations.
Pei‐Chin Lin, Chao‐Neng Cheng, Hsi‐Yuan Huang, Yu‐Hsin Tseng, Ya‐Sian Chang, Chien‐Yu Lin, Jan‐Gowth Chang   +6 more
doaj   +1 more source

Empowering precision medicine through high performance computing clusters [PDF]

, 2018
The role of High Performance Computing (HPC) in Medicine is greatly increase in these last years, moving from basic research to the clinics. With the advent of Next Generation Sequencing (NGS) technologies, diverse areas of human health have been ...
Castrignanò Tiziana, Chillemi Giovanni, Parisi Valerio   +2 more
core   +2 more sources

The promise of whole-exome sequencing in medical genetics [PDF]

Journal of Human Genetics, 2013
Massively parallel DNA-sequencing systems provide sequence of huge numbers of different DNA strands at once. These technologies are revolutionizing our understanding in medical genetics, accelerating health-improvement projects, and ushering to a fully understood personalized medicine in near future.
Rabbani, B., Tekin, M., Mahdieh, N.
openaire   +3 more sources

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Prognosis prediction of stage IV colorectal cancer patients by mRNA transcriptional profile

Cancer Medicine, Volume 11, Issue 24, Page 4900-4912, December 2022., 2022
This study aimed to clarify the prognostic factors for stage IV CRC patients undergoing primary cancer resection but not liver metastasis resection. WES and RNA‐Seq were used to sequence primary cancer tissues of 78 and 84 patients, respectively. Models were established to stratify the prognosis and to predict individual patient prognosis.
Bian Wu, Jinwei Yang, Zhiwei Qin, Hongping Yang, Jingyi Shao, Yun Shang   +5 more
wiley   +1 more source

A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia [PDF]

, 2016
We report the findings from a patient who presented with a concurrent mediastinal germ cell tumor (GCT) and acute myeloid leukemia (AML). Bone marrow pathology was consistent with a diagnosis of acute megakaryoblastic leukemia (AML M7), and biopsy of an ...
Demeter, Ryan T, Duncavage, Eric J, Griffith, Malachi, Griffith, Obi L, Hagemann, Ian S, Lu, Charles, Magrini, Vincent, Miller, Christopher A, O\u27Laughlin, Michelle, Ozenberger, Bradley A, Riedell, Peter, Wartman, Lukas D, Westervelt, Peter   +12 more
core   +2 more sources

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Autosomal recessive hyper‐IgE syndrome due to DOCK8 deficiency: An adjunctive role for omalizumab

Journal of Cutaneous Immunology and Allergy, Volume 5, Issue 6, Page 222-226, December 2022., 2022
We report a rare case of AR‐HIES with DOCK8 deficiency in a young male that was successfully treated by infection management, skincare, diet elimination, and omalizumab. Abstract Autosomal recessive hyper‐IgE syndrome (AR‐HIES) is a rare primary immunodeficiency disorder characterized by high serum IgE levels, recurrent viral skin infections, severe ...
Kim Han Nguyen, Quynh Anh Nguyen, Mai Hoang Tran, Thu Thuy Can, Mai Thi Vu, Nam Sy Vo, Hieu Chu Chi, Sheryl van Nunen, Dinh Van Nguyen   +8 more
wiley   +1 more source